SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: Frontotemporal Dementia With Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.400 CausalMutation disease CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.400 CausalMutation disease CLINVAR SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 26208961 2015
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.400 GermlineCausalMutation disease ORPHANET SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.400 CausalMutation disease CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734 2013
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.400 CausalMutation disease CLINVAR Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. 17129171 2007
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.400 CausalMutation disease CLINVAR Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 12374763 2002